Variant report

Variant	rs201463367
Chromosome Location	chrX:153665571-153665572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chrX:153665225-153665673	SK-N-SH_RA	brain:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
2	POLR2A	chrX:153665323-153666050	K562	blood:	n/a	n/a
3	POLR2A	chrX:153665438-153665722	HepG2	liver:	n/a	n/a
4	YY1	chrX:153665365-153665741	SK-N-SH	brain:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
5	POLR2A	chrX:153665390-153665693	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chrX:153665351-153665754	GM18505	blood:	n/a	n/a
7	YY1	chrX:153665208-153665769	ECC-1	luminal epithelium:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
8	REST	chrX:153665343-153665713	PANC-1	pancreas:	n/a	chrX:153665381-153665394 chrX:153665663-153665676
9	CCNT2	chrX:153664814-153665660	K562	blood:	n/a	chrX:153665171-153665180
10	POLR2A	chrX:153665292-153665857	H1-neurons	neurons:	n/a	n/a
11	TAF1	chrX:153665323-153665640	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chrX:153665263-153665860	MCF-7	breast:	n/a	n/a
13	POLR2A	chrX:153665445-153665701	GM12891	blood:	n/a	n/a
14	SIN3A	chrX:153665355-153665818	H1-hESC	embryonic stem cell:	n/a	chrX:153665357-153665366 chrX:153665429-153665440 chrX:153665464-153665475
15	TAF1	chrX:153665297-153665699	PFSK-1	brain:	n/a	n/a
16	YY1	chrX:153665206-153665671	SK-N-SH_RA	brain:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
17	PAX5	chrX:153665316-153665985	GM12892	blood:	n/a	n/a
18	ELF1	chrX:153665237-153666242	GM12878	blood:	n/a	n/a
19	TAF1	chrX:153665241-153665701	GM12878	blood:	n/a	n/a
20	POLR2A	chrX:153665423-153665704	GM12891	blood:	n/a	n/a
21	YY1	chrX:153665243-153665641	GM12891	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
22	YY1	chrX:153665207-153665643	GM12892	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
23	POLR2A	chrX:153665408-153665703	U87	brain:	n/a	n/a
24	POLR2A	chrX:153665278-153665755	GM12878	blood:	n/a	n/a
25	SIN3AK20	chrX:153665248-153665824	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chrX:153665246-153665873	PFSK-1	brain:	n/a	n/a
27	YY1	chrX:153665239-153665686	H1-hESC	embryonic stem cell:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
28	RUNX3	chrX:153665308-153665737	GM12878	blood:	n/a	n/a
29	TAF1	chrX:153665345-153665642	GM12892	blood:	n/a	n/a
30	POLR2A	chrX:153664752-153666906	ProgFib	skin:	n/a	n/a
31	MAZ	chrX:153664611-153666068	IMR90	lung:	n/a	chrX:153665813-153665822 chrX:153665165-153665175
32	POLR2A	chrX:153665418-153665712	A549	lung:	n/a	n/a
33	HEY1	chrX:153665476-153665756	K562	blood:	n/a	chrX:153665652-153665667
34	TAF1	chrX:153665339-153665781	A549	lung:	n/a	n/a
35	TAF1	chrX:153665308-153665710	K562	blood:	n/a	n/a
36	YY1	chrX:153665299-153665728	H1-hESC	embryonic stem cell:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
37	POLR2A	chrX:153665403-153665780	A549	lung:	n/a	n/a
38	POLR2A	chrX:153665321-153665684	HCT-116	colon:	n/a	n/a
39	RUNX3	chrX:153665270-153665749	GM12878	blood:	n/a	n/a
40	YY1	chrX:153665173-153665795	GM12892	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509 chrX:153665729-153665748
41	REST	chrX:153665477-153665691	SK-N-SH	brain:	n/a	chrX:153665663-153665676
42	YY1	chrX:153665207-153665747	GM12878	blood:	n/a	chrX:153665493-153665505 chrX:153665466-153665475 chrX:153665492-153665509
43	POLR2A	chrX:153665315-153665815	Hela-S3	cervix:	n/a	n/a
44	MAX	chrX:153665301-153665781	ECC-1	luminal epithelium:	n/a	n/a
45	TAF1	chrX:153665299-153665751	HepG2	liver:	n/a	n/a
46	POLR2A	chrX:153665393-153665771	Raji	blood:	n/a	n/a
47	TAF1	chrX:153665314-153665793	HepG2	liver:	n/a	n/a
48	HEY1	chrX:153665369-153665673	HepG2	liver:	n/a	chrX:153665652-153665667
49	POLR2A	chrX:153665270-153665706	A549	lung:	n/a	n/a
50	MYC	chrX:153665561-153665645	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:153596589..153600122-chrX:153663177..153666593,6	K562	blood:
2	X:153657611-153671976..X:153681712-153701576	Hela-S3	cervix:
3	X:153214268-153230257..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
4	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
5	chrX:153665329..153668066-chrX:153774780..153776926,2	MCF-7	breast:
6	X:153625659-153635385..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
7	X:153187063-153190397..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
8	chrX:153638347..153641309-chrX:153665287..153666936,2	K562	blood:
9	chrX:153663553..153666950-chrX:153742012..153745567,3	MCF-7	breast:
10	X:153657611-153671976..X:153967468-153979902	H1-hESC	embryonic stem cell:	embryo
11	X:153657611-153671976..X:153755323-153771683	Hela-S3	cervix:
12	chrX:153661960..153666485-chrX:153685751..153689252,6	K562	blood:
13	chrX:153595338..153600468-chrX:153664217..153668349,5	K562	blood:
14	chrX:153597446..153602147-chrX:153663095..153667390,6	MCF-7	breast:
15	X:153586280-153597086..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
16	X:153657611-153671976..X:154015910-154019964	Hela-S3	cervix:
17	chrX:153625525..153632382-chrX:153663983..153668753,13	K562	blood:
18	chrX:153661692..153667668-chrX:153711020..153716574,8	MCF-7	breast:
19	chrX:153665315..153667101-chrX:153706247..153709053,2	K562	blood:
20	X:153657611-153671976..X:153736289-153755323	Hela-S3	cervix:
21	chrX:153664219..153666172-chrX:153706574..153708655,2	MCF-7	breast:
22	X:153198557-153214268..X:153657611-153671976	Hela-S3	cervix:
23	X:153657611-153671976..X:153701576-153715648	Hela-S3	cervix:
24	X:153574513-153584637..X:153657611-153671976	H1-hESC	embryonic stem cell:	embryo
25	chrX:153664786..153666596-chrX:153718680..153720601,2	MCF-7	breast:
26	chrX:153625254..153633054-chrX:153663966..153667311,10	MCF-7	breast:

Variant related genes	Relation type
GDI1	TF binding region
ENSG00000073009	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000102032	Chromatin interaction
ENSG00000102030	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000013563	Chromatin interaction
ENSG00000089820	Chromatin interaction
ENSG00000196976	Chromatin interaction
ENSG00000160219	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000071889	Chromatin interaction
ENSG00000130830	Chromatin interaction
ENSG00000207165	Chromatin interaction
ENSG00000261773	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
2	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
3	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
7	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
8	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
9	esv3408138	chrX:153664208-153666531	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153658400-153665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:153659600-153666000	Weak transcription	Stomach Mucosa	stomach
3	chrX:153660400-153679800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chrX:153664000-153667000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chrX:153664400-153666600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chrX:153664400-153666800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chrX:153664400-153666800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chrX:153664600-153665800	ZNF genes & repeats	Lung	lung
9	chrX:153664600-153666400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chrX:153664600-153666400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chrX:153664600-153666600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chrX:153664600-153666600	Active TSS	Brain Substantia Nigra	brain
13	chrX:153664600-153666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chrX:153664600-153666800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chrX:153664600-153666800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chrX:153664600-153666800	Active TSS	Brain Cingulate Gyrus	brain
17	chrX:153664600-153667000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chrX:153664600-153667400	Active TSS	Brain Germinal Matrix	brain
19	chrX:153664800-153665600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chrX:153664800-153666000	Active TSS	Primary hematopoietic stem cells	blood
21	chrX:153664800-153666000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chrX:153664800-153666000	Active TSS	Gastric	stomach
23	chrX:153664800-153666200	Active TSS	Primary B cells from cord blood	blood
24	chrX:153664800-153666200	Active TSS	Primary T cells from cord blood	blood
25	chrX:153664800-153666200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chrX:153664800-153666200	Active TSS	Rectal Mucosa Donor 31	rectum
27	chrX:153664800-153666400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chrX:153664800-153666400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chrX:153664800-153666400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chrX:153664800-153666400	Weak transcription	Fetal Heart	heart
31	chrX:153664800-153666400	Active TSS	Ovary	ovary
32	chrX:153664800-153666400	Active TSS	Placenta Amnion	Placenta Amnion
33	chrX:153664800-153666400	Active TSS	Small Intestine	intestine
34	chrX:153664800-153666400	Active TSS	GM12878-XiMat	blood
35	chrX:153664800-153666600	Active TSS	H1 Cell Line	embryonic stem cell
36	chrX:153664800-153666600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chrX:153664800-153666600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chrX:153664800-153666600	Active TSS	Aorta	Aorta
39	chrX:153664800-153666600	Active TSS	Brain Anterior Caudate	brain
40	chrX:153664800-153666600	Active TSS	Esophagus	oesophagus
41	chrX:153664800-153666600	Active TSS	Fetal Lung	lung
42	chrX:153664800-153666600	Active TSS	Left Ventricle	heart
43	chrX:153664800-153666600	Active TSS	Right Atrium	heart
44	chrX:153664800-153666600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chrX:153664800-153666600	Active TSS	Osteobl	bone
46	chrX:153664800-153666800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chrX:153664800-153666800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chrX:153664800-153666800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chrX:153664800-153666800	Active TSS	Psoas Muscle	Psoas
50	chrX:153664800-153666800	Active TSS	Rectal Smooth Muscle	rectum

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